Canonical Allele Identifier: CA10776439

Gene: ABCA4

Linked Data

• dbSNP Id: rs1931575
• gnomAD v2: 1-94533014-T-C
• gnomAD v3: 1-94067458-T-C
• gnomAD v4: 1-94067458-T-C
• MyVariant Identifiers: chr1:g.94533014T>C (hg19) ; chr1:g.94067458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94067458T>C , CM000663.2:g.94067458T>C	GRCh38
NC_000001.10:g.94533014T>C , CM000663.1:g.94533014T>C	GRCh37
NC_000001.9:g.94305602T>C	NCBI36
NG_009073.1:g.58692A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1555-4141A>G MANE Select	ENSP00000359245.3:n.1555-4141A>G
ENST00000649773.1:c.1555-4141A>G	ENSP00000496882.1:n.1555-4141A>G
ENST00000370225.3:c.1555-4141A>G	ENSP00000359245.3:n.1555-4141A>G
NM_000350.2:c.1555-4141A>G	NP_000341.2:n.1555-4141A>G
NM_000350.3:c.1555-4141A>G MANE Select	NP_000341.2:n.1555-4141A>G